Linked Data
ClinVar Variation Id:
302936
dbSNP Id:
rs185696769
gnomAD v2:
11-119211409-C-G
gnomAD v3:
11-119340699-C-G
gnomAD v4:
11-119340699-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119340699C>G , CM000673.2:g.119340699C>G | GRCh38 |
| NC_000011.9:g.119211409C>G , CM000673.1:g.119211409C>G | GRCh37 |
| NC_000011.8:g.118716619C>G | NCBI36 |
| NG_012235.1:g.10975G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528368.3:c.-48G>C (C1QTNF5) MANE Select | ENSP00000431140.1:n.-48G>C | |
| ENST00000619721.6:c.*849G>C (MFRP) MANE Select | ENSP00000481824.1:n.*849G>C | |
| ENST00000525657.2:n.100G>C (C1QTNF5) | ||
| ENST00000528368.2:c.-48G>C (C1QTNF5) | ENSP00000431140.1:n.-48G>C | |
| ENST00000619721.5:c.*849G>C (MFRP) | ENSP00000481824.1:n.*849G>C | |
| ENST00000634633.1:c.-48G>C (C1QTNF5) | ENSP00000489201.1:n.-48G>C | |
| NM_001278431.1:c.-48G>C (C1QTNF5) | NP_001265360.1:n.-48G>C | |
| NM_015645.4:c.-48G>C (C1QTNF5) | NP_056460.1:n.-48G>C | |
| NM_031433.3:c.*849G>C (MFRP) | NP_113621.1:n.*849G>C | |
| NM_001278431.2:c.-48G>C (C1QTNF5) MANE Select | NP_001265360.1:n.-48G>C | |
| NM_031433.4:c.*849G>C (MFRP) MANE Select | NP_113621.1:n.*849G>C | |
| NM_015645.5:c.-48G>C (C1QTNF5) | NP_056460.1:n.-48G>C |